Incidental Mutation 'R5527:Xpr1'
ID 431897
Institutional Source Beutler Lab
Gene Symbol Xpr1
Ensembl Gene ENSMUSG00000026469
Gene Name xenotropic and polytropic retrovirus receptor 1
Synonyms suppressor of yeast G deletion, Rmc1, Rmc-1, Syg1
MMRRC Submission 043085-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.865) question?
Stock # R5527 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 155151447-155293161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155165981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 524 (N524D)
Ref Sequence ENSEMBL: ENSMUSP00000107405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027741] [ENSMUST00000111774] [ENSMUST00000111775]
AlphaFold Q9Z0U0
Predicted Effect probably benign
Transcript: ENSMUST00000027741
AA Change: N589D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027741
Gene: ENSMUSG00000026469
AA Change: N589D

DomainStartEndE-ValueType
Pfam:SPX 1 174 1.4e-33 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 268 616 5.8e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111774
AA Change: N589D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107404
Gene: ENSMUSG00000026469
AA Change: N589D

DomainStartEndE-ValueType
Pfam:SPX 1 176 1.5e-38 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 267 617 2.4e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111775
AA Change: N524D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107405
Gene: ENSMUSG00000026469
AA Change: N524D

DomainStartEndE-ValueType
Pfam:SPX 1 176 4.5e-39 PFAM
transmembrane domain 235 257 N/A INTRINSIC
Pfam:EXS 267 434 3.6e-45 PFAM
Pfam:EXS 432 552 3.6e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192359
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygotes and heterozygotes for a variant from some wild Mus stocks, including M. spretus, support replication of xenotropic murine leukemia viruses and mink cell focus-forming murine leukemia viruses that are not replicated in most laboratory strains. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,278,842 (GRCm39) Y1051N probably benign Het
Bach1 T C 16: 87,516,433 (GRCm39) S325P probably benign Het
Baz2a T C 10: 127,960,786 (GRCm39) S1529P probably damaging Het
Bicd1 T C 6: 149,396,134 (GRCm39) L168P probably damaging Het
Cat A G 2: 103,303,318 (GRCm39) F153S probably damaging Het
Ccnt2 T C 1: 127,730,401 (GRCm39) M426T probably benign Het
Cdk7 C T 13: 100,866,980 (GRCm39) V38I probably damaging Het
Cenpj T C 14: 56,764,440 (GRCm39) Y1324C probably damaging Het
Cplane2 C A 4: 140,947,303 (GRCm39) A228D probably damaging Het
Ddx47 C A 6: 134,988,657 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,328,014 (GRCm39) Q3370* probably null Het
Dnah6 C T 6: 73,136,212 (GRCm39) V976I probably benign Het
Dock7 C T 4: 98,842,105 (GRCm39) probably benign Het
Dpy19l3 A T 7: 35,413,555 (GRCm39) I362N possibly damaging Het
Fam118a A T 15: 84,942,999 (GRCm39) T343S probably benign Het
Fcgbp T A 7: 27,793,060 (GRCm39) D1021E probably benign Het
Fkbp1b T C 12: 4,883,746 (GRCm39) Y83C probably damaging Het
Flt4 T C 11: 49,525,581 (GRCm39) I709T probably damaging Het
Gga3 G T 11: 115,478,262 (GRCm39) A510D probably damaging Het
Heatr1 T C 13: 12,417,641 (GRCm39) I264T probably damaging Het
Heatr1 T C 13: 12,419,829 (GRCm39) I384T probably benign Het
Hes2 T C 4: 152,244,849 (GRCm39) V106A probably benign Het
Igf1r T A 7: 67,857,569 (GRCm39) M1083K probably damaging Het
Il7r A T 15: 9,513,010 (GRCm39) D166E probably benign Het
Ipo4 G A 14: 55,869,507 (GRCm39) probably null Het
Klk1b26 T C 7: 43,662,187 (GRCm39) I15T probably benign Het
Krt42 T C 11: 100,154,121 (GRCm39) probably benign Het
Lag3 T C 6: 124,885,592 (GRCm39) T263A probably damaging Het
Lilra6 T A 7: 3,917,586 (GRCm39) probably benign Het
Lrrc31 T A 3: 30,745,377 (GRCm39) H90L probably damaging Het
Lvrn G A 18: 47,006,870 (GRCm39) D331N probably damaging Het
Me2 A T 18: 73,924,187 (GRCm39) W342R probably damaging Het
Mob2 A G 7: 141,563,147 (GRCm39) F220S probably damaging Het
Mroh4 A G 15: 74,486,865 (GRCm39) I342T probably damaging Het
Naa15 T C 3: 51,349,368 (GRCm39) Y46H probably damaging Het
Neb A G 2: 52,224,465 (GRCm39) V10A unknown Het
Nlrc5 A G 8: 95,217,044 (GRCm39) H1011R probably damaging Het
Nr1i3 A G 1: 171,041,921 (GRCm39) T2A possibly damaging Het
Nrros T C 16: 31,963,288 (GRCm39) N207S probably damaging Het
Or52m2 A T 7: 102,263,768 (GRCm39) S143T probably benign Het
Or7c70 C T 10: 78,683,609 (GRCm39) V47M probably benign Het
Pcare A T 17: 72,059,635 (GRCm39) V14D probably damaging Het
Ptprz1 C T 6: 23,000,052 (GRCm39) T714I possibly damaging Het
Rp1 T C 1: 4,416,616 (GRCm39) T1499A possibly damaging Het
Rubcn T C 16: 32,647,081 (GRCm39) K771E probably damaging Het
Sbds T C 5: 130,275,247 (GRCm39) E227G possibly damaging Het
Setd1a C T 7: 127,384,801 (GRCm39) P8S probably damaging Het
Sh3tc2 A G 18: 62,144,932 (GRCm39) I1129V probably benign Het
Spef1 T A 2: 131,014,661 (GRCm39) D87V probably damaging Het
Supv3l1 C T 10: 62,265,608 (GRCm39) R644Q probably damaging Het
Thoc6 A G 17: 23,889,769 (GRCm39) F51S probably damaging Het
Tm4sf19 T C 16: 32,226,739 (GRCm39) L176P probably damaging Het
Tma16 A G 8: 66,936,776 (GRCm39) I17T possibly damaging Het
Tpd52l2 G A 2: 181,143,847 (GRCm39) probably null Het
Ube2j1 C T 4: 33,045,164 (GRCm39) P146S probably benign Het
Ubr4 T A 4: 139,208,099 (GRCm39) I4960N possibly damaging Het
Usp13 A G 3: 32,919,987 (GRCm39) D224G probably damaging Het
Uxs1 T C 1: 43,819,240 (GRCm39) T188A probably damaging Het
Vmn2r12 A T 5: 109,234,483 (GRCm39) Y576* probably null Het
Vmn2r73 T C 7: 85,507,575 (GRCm39) D579G possibly damaging Het
Xrn2 A T 2: 146,871,675 (GRCm39) I366L probably benign Het
Zfp236 A T 18: 82,676,159 (GRCm39) V386E possibly damaging Het
Zfp292 A T 4: 34,806,261 (GRCm39) L2261Q probably damaging Het
Zpld1 C G 16: 55,046,725 (GRCm39) E415Q probably benign Het
Other mutations in Xpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01970:Xpr1 APN 1 155,165,980 (GRCm39) missense probably benign 0.00
IGL02657:Xpr1 APN 1 155,166,026 (GRCm39) missense probably benign 0.05
IGL03077:Xpr1 APN 1 155,156,774 (GRCm39) missense possibly damaging 0.58
R0019:Xpr1 UTSW 1 155,208,145 (GRCm39) splice site probably benign
R0350:Xpr1 UTSW 1 155,206,214 (GRCm39) missense probably damaging 1.00
R1299:Xpr1 UTSW 1 155,292,949 (GRCm39) missense probably damaging 0.99
R1855:Xpr1 UTSW 1 155,159,002 (GRCm39) missense probably benign
R2008:Xpr1 UTSW 1 155,156,775 (GRCm39) splice site probably null
R2071:Xpr1 UTSW 1 155,166,026 (GRCm39) missense probably benign 0.05
R4293:Xpr1 UTSW 1 155,188,542 (GRCm39) missense possibly damaging 0.91
R4509:Xpr1 UTSW 1 155,165,907 (GRCm39) intron probably benign
R5060:Xpr1 UTSW 1 155,204,430 (GRCm39) critical splice acceptor site probably null
R5586:Xpr1 UTSW 1 155,188,609 (GRCm39) missense probably benign
R5860:Xpr1 UTSW 1 155,207,868 (GRCm39) intron probably benign
R7565:Xpr1 UTSW 1 155,183,488 (GRCm39) missense probably benign
R7729:Xpr1 UTSW 1 155,188,618 (GRCm39) missense probably benign
R7976:Xpr1 UTSW 1 155,166,035 (GRCm39) missense possibly damaging 0.62
R7985:Xpr1 UTSW 1 155,188,641 (GRCm39) missense possibly damaging 0.56
R8330:Xpr1 UTSW 1 155,189,001 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2016-10-05